Search details
1.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Epilepsia
; 65(3): 779-791, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38088023
2.
Familial adult myoclonus epilepsy: Clinical findings, disease course, and comorbidities.
Epilepsia
; 64 Suppl 1: S9-S13, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-36994678
3.
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study.
Epilepsy Behav
; 103(Pt A): 106578, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31680025
4.
Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy.
Ann Neurol
; 83(3): 483-493, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29394500
5.
Validated outcome of treatment changes according to International League Against Epilepsy criteria in adults with drug-resistant focal epilepsy.
Epilepsia
; 60(6): 1114-1123, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30866058
6.
High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.
Neurocase
; 25(1-2): 62-65, 2019.
Article
in English
| MEDLINE | ID: mdl-30991884
7.
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
Am J Hum Genet
; 96(6): 992-1000, 2015 Jun 04.
Article
in English
| MEDLINE | ID: mdl-26046367
8.
Clinical features and evolution of the gelastic seizures-hypothalamic hamartoma syndrome.
Epilepsia
; 58 Suppl 2: 12-15, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28591476
9.
The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.
Epilepsy Behav
; 68: 103-107, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28142128
10.
The challenges of treating epilepsy with 25 antiepileptic drugs.
Pharmacol Res
; 107: 211-219, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26995307
11.
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Brain
; 138(Pt 5): 1198-207, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25783594
12.
Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy.
Epilepsy Behav
; 56: 38-43, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26827300
13.
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.
Neurol Sci
; 42(5): 2115-2117, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33201365
14.
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.
Epilepsia
; 56(10): e168-71, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26216793
15.
A prospective study of direct medical costs in a large cohort of consecutively enrolled patients with refractory epilepsy in Italy.
Epilepsia
; 56(7): 1162-73, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-26046371
16.
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series.
Int J Legal Med
; 129(3): 495-504, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25119684
17.
Severe epilepsy in an adult with partial trisomy 18q.
Am J Med Genet A
; 164A(12): 3148-53, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25257782
18.
Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees.
Epilepsia
; 55(10): 1651-8, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25243798
19.
Extreme startle and photomyoclonic response in severe hypocalcaemia.
Epileptic Disord
; 16(1): 84-7, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24659607
20.
Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.
Epilepsia
; 54(8): e112-6, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23899126